title: Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
mesh_terms: D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D014687:Venezuela
chemical_list: D003541:Cystathionine beta-Synthase